Embryonic Screening Selecting for the Perfect Child
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Background Document on Preimplantation and Prenatal Genetic Testing
DH-BIO/INF (2015) 6 Background document on preimplantation and prenatal genetic testing Clinical Situation Legal situation1 1 Part II of this document presents the legal situation in Council of Europe member states and will be regularly updated (last update 7 May 2015). The updated text is highlighted in green. TABLE OF CONTENTS Introduction ............................................................................................................... 3 Part I. Preimplantation (PGD) and Prenatal (PND) Genetic Diagnosis. Clinical practice, Trends and Technological Developments ................................................... 4 1. Genetic diseases .............................................................................................. 4 1.1 Monogenic diseases ......................................................................................... 4 1.2 Polygenic diseases or multifactorial diseases ................................................... 5 1.3 Chromosomal diseases .................................................................................... 5 2. Preimplantation genetic diagnosis on embryonic cells ...................................... 5 2.1 General description of the procedure ................................................................ 5 2.2 PGD uses ......................................................................................................... 6 2.2.1 Main uses of PGD for medical indications ......................................................... 6 2.2.2 Use of PGD for the benefit of the health -
FA Family News 3/01
FAMILY NEWSLETTER #29 A Semi-annual Newsletter on Fanconi Anemia for Families, Physicians, and Research Scientists Spring 2001 Researchers, treating physicians, and FA parents attended the FA Scientific Symposium in October. HIGHLIGHTS Fanconi Anemia Plan to Attend August Scientific Symposium Family Meeting! Discoveries Reported...................2 One hundred fifty-six researchers, Our 10th annual FA Family Meet- Gene Therapy Trial to Begin.......2 treating physicians, and fifteen FA par- ing is seven months away, but now is ents from fourteen countries met in the time to start planning. This year, Bone Marrow Transplant Conference Planned .................2 Amsterdam for the Twelfth Annual we will offer a limited number of schol- International FA Scientific Sympo- arships to help families defray travel Comparison Between sium, October 26-29, 2000. Coun- and lodging expenses (see article, p. 11). Complementation Group and Mutations, and Clinical tries represented were Tunisia, France, From August 10-14, 2001, FA fam- Outcomes...................................3 England, Canada, Spain, Italy, Ger- ilies, treating physicians, and research- many, Argentina, Israel, Japan, South ers will meet at the picturesque lake- Fludarabine-Based Regimen for Alternate Donor Hemato- Africa, Russia, The Netherlands and front setting of Aurora University’s poietic Cell Transplantation....4 the United States. Fifty-one scientists George Williams Lake Geneva cam- and treating physicians gave formal pus in Williams Bay, Wisconsin. We New Promising Vectors for presentations. Evaluations from atten- will learn from our experts, meet and Gene Therapy ............................4 dees confirmed, once again, that our share experiences with other FA fam- Preimplantation Genetic annual scientific meeting is an out- ilies, and relax. -
International Journal of Pediatrics and Neonatal Health, 2 (1)
Twenty-seven years of controversy: The perils of PGD Item Type Article Authors Cherkassky, Lisa Citation Cherkassky, L. (2018) 'Twenty-seven years of controversy: The perils of PGD', International Journal of Pediatrics and Neonatal Health, 2 (1). Publisher BioCore Journal International Journal of Pediatrics and Neonatal Health Download date 25/09/2021 21:30:55 Link to Item http://hdl.handle.net/10545/622151 Lisa Cherkassky (2017). Twenty-Seven Years of Controversy: The Perils of PGD. Int J Ped & Neo Heal. 1:6, International Journal of Pediatrics and Neonatal Health ISSN 2572-4355 Review Article Open Access Twenty-Seven Years of Controversy: The Perils of PGD Lisa Cherkassky Senior Lecturer in Law, Derby Law School , University of Derby, UK *Corresponding Author: Lisa Cherkassky, Senior Lecturer in Law, Derby Law School , University of Derby, UK, Tel: 01332 591806, E-Mail: [email protected] Citation: Lisa Cherkassky (2017). Twenty-Seven Years of Controversy: The Perils of PGD. Int J Ped & Neo Heal. 1:6, Copyright: © 2017 Lisa Cherkassky. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Received November 28, 2017 ; Accepted December 08, 2017 ; Published XXXX, 2017. Abstract It has been 27 years since the Human Fertilisation and Embryology Act 1990 was passed in the United Kingdom in response to advances in fertility treatment. Preimplantation genetic diagnosis - the screening of embryos for genetic diseases - has led to lengthy ethical de- bates on sex selection, eugenics, disabilities, saviour siblings, surplus embryos and most recently, adult-onset diseases (the BRCA cancer gene). -
The Ukrainian Weekly 1991
їкЬей by the Ukrainian National Association Inc., a fraternal non-profit association! rainian WeeklУ Vol. LIX Ш THE UKRAINIAN WEEKLY SUNDAY, APRIL 21,1991 50 cents No. 16 Scientist says Chornobyl Miners, workers protest in Kiev claimed 10,000 lives Republican strike leader is arrested JERSEY CITY, N.J. - Vladimir explosion and that, "Three months ago by Marta Koiomayets arrived from all coal-producing regions Chernousenko, the scientific director in one of the people who participated in Kiev Press Bureau in Ukraine - from Volyn to Luhanske charge of the 20-mile exclusion zone limiting the damage of the accident died — on April 15 and 16 to demand that surrounding the Chornobyl nuclear in Kiev." KIEV - Dmytro Poyizd, the legal their government guarantee them and consultant for the newly formed the citizens of their republic a better power plant, said that the Chornobyl He further stated that "Some of the disaster claimed between 7,000 and Republican Strike Committee, was future — a future that includes free people involved in limiting the damage arrested early in the morning on Thurs dom for Ukraine. 10,000 lives, far more than the Soviet to Chornobyl received (radiation) doses government's official figures, reported day, April 18, just hours after he Angered upon learning the fate of one above the maximum...in fact 145 people organized a miners' and workers' sit-in of their leaders, the miners began the April 14 edition of the British came down with acute radiation newspaper Independent on Sunday. along the Khreshchatyk boulevard, planning anew strategy on Thursday sickness." Other scientists contacted at reported Bohdan Ternopilsky, vice- morning. -
Genetic Testing
GENETIC TESTING The transcript of a Witness Seminar held by the Wellcome Trust Centre for the History of Medicine at UCL, London, on 13 July 2001 Edited by D A Christie and E M Tansey Volume 17 2003 CONTENTS Illustrations v Introduction Professor Peter Harper vii Acknowledgements ix Witness Seminars: Meetings and publications xi E M Tansey and D A Christie Transcript Edited by D A Christie and E M Tansey 1 References 73 Biographical notes 91 Glossary 105 Index 115 ILLUSTRATIONS Figure 1 Triploid cells in a human embryo, 1961. 20 Figure 2 The use of FISH with DNA probes from the X and Y chromosomes to sex human embryos. 62 v vi INTRODUCTION Genetic testing is now such a widespread and important part of medicine that it is hard to realize that it has almost all emerged during the past 30 years, with most of the key workers responsible for the discoveries and development of the field still living and active. This alone makes it a suitable subject for a Witness Seminar but there are others that increase its value, notably the fact that a high proportion of the critical advances took place in the UK; not just the basic scientific research, but also the initial applications in clinical practice, particularly those involving inherited disorders. To see these topics discussed by the people who were actually involved in their creation makes fascinating reading; for myself it is tinged with regret at having been unable to attend and contribute to the seminar, but with some compensation from being able to look at the contributions more objectively than can a participant. -
Preimplantation Genetic Testing for Aneuploidy (PGT-A): the Biology, the Technology and the Clinical Outcomes
Aust N Z J Obstet Gynaecol 2019; 1–8 DOI: 10.1111/ajo.12960 OPINION Preimplantation genetic testing for aneuploidy (PGT-A): The biology, the technology and the clinical outcomes Hayden Anthony Homer1,2,3 1Christopher Chen Oocyte Biology Research Laboratory, UQ Centre Preimplantation genetic testing for aneuploidy (PGT-A) seeks to identify preim- for Clinical Research, The University plantation embryos with a normal chromosome complement (euploid) during in of Queensland, Brisbane, Queensland, Australia vitro fertilisation (IVF). By sifting out embryos with abnormal chromosome num- 2Reproductive Endocrinology and bers (aneuploid), PGT-A should theoretically improve pregnancy success. Infertility Clinic, Royal Brisbane However, earlier versions of PGT-A were ineffective, and in some cases, detri- & Women's Hospital, Brisbane, Queensland, Australia mental, due to biopsy-induced trauma and because the technology at the time 3Queensland Fertility Group, Brisbane, could analyse only a fraction of all chromosomes. More recently, the emergence Queensland, Australia of technologies enabling all chromosomes to be analysed and a switch to less Correspondence: Professor Hayden traumatic blastocyst-stage biopsy have seen widespread uptake of PGT-A. Anthony Homer, Christopher Chen Assessing the full impact of blastocyst biopsy PGT-A requires consideration of Oocyte Biology Research Laboratory, UQ Centre for Clinical Research, The multiple factors, including embryonic mosaicism, sensitivity of the technological University of Queensland, Building platform used, embryo loss during long-term in vitro culture, embryo cryo- 71/918, Royal Brisbane & Women's Hospital Campus, Herston, QLD 4029, preservation and inter-clinic variability in expertise. Significantly, there hasn‘t Australia. yet been an appropriately designed randomised controlled trial (RCT) of blasto- Email: [email protected] cyst biopsy PGT-A analysed by intention-to- treat that accounts for all these pa- Conflicts of Interest: The author report no conflicts of interest. -
New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing As a Potential Predictor of Health Status of Babies
Hindawi Publishing Corporation BioMed Research International Volume 2014, Article ID 306505, 8 pages http://dx.doi.org/10.1155/2014/306505 Review Article New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies Tanya Milachich SAGBAL Dr. Shterev, IVF Unit, Hristo Blagoev 25-31, 1330 Sofia, Bulgaria Correspondence should be addressed to Tanya Milachich; tanya [email protected] Received 24 December 2013; Revised 13 February 2014; Accepted 15 February 2014; Published 24 March 2014 Academic Editor: Irma Virant-Klun Copyright © 2014 Tanya Milachich. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. -
Over a Decade of Experience with Preimplantation Genetic Diagnosis a Multicenter Report
FERTILITY AND STERILITY VOL. 82, NO. 2, AUGUST 2004 CONTROVERSY: PREIMPLANTATION Copyright ©2004 American Society for Reproductive Medicine Published by Elsevier Inc. GENETIC DIAGNOSIS Printed on acid-free paper in U.S.A. Over a decade of experience with preimplantation genetic diagnosis: a multicenter report Yury Verlinsky, Ph.D.,a Jacques Cohen, Ph.D.,b Santiago Munne, Ph.D.,b Luca Gianaroli, M.D.,c Joe Leigh Simpson, M.D.,d Anna Pia Ferraretti, M.D.,c and Anver Kuliev, M.D., Ph.D.a Reproductive Genetics Institute, Chicago, Illinois; Saint Barnabas Medical Center, West Orange, New Jersey; and Societa Italiana Stukli di MEdicina della Reproduzione (SISMER), Bologna, Italy Objective: To review a 12-year experience of the world’s three largest preimplantation genetic diagnosis (PGD) centers. Design: Multicenter analysis of the clinical outcome of PGD. Setting: In vitro fertilization programs at the Reproductive Genetics Institute, Chicago, Illinois; Saint Barnabas Medical Center, West Orange, New Jersey; and SISMER, Bologna, Italy. Patient(s): Poor-prognosis IVF patients, patients carrying balanced chromosomal translocations, and couples at risk for producing children with Mendelian disorders. Intervention(s): In vitro fertilization, intracytoplasmic sperm injection, polar body removal, blastomere biopsy, and ET. Main Outcome Measure(s): DNA or chromosomal analysis of biopsied polar bodies or blastomeres, implantation and clinical pregnancy rates, and live-born pregnancy outcome. Result(s): A total of 754 babies have been born as a result of 4,748 PGD attempts, which shows the expanded application and the practical relevance of PGD for single-gene disorders, chromosomal aneuploidies and translocations, late-onset diseases with genetic predisposition, and nondisease testing in couples at need for human leukocyte antigens-matched offspring for treatment of affected siblings. -
Live Births After Polar Body Biopsy and Frozen-Thawed Cleavage Stage Embryo Transfer: Case Report
JBRA Assisted Reproduction 2016;20(4):253-256 doi: 10.5935/1518-0557.20160049 Case Report Live births after polar body biopsy and frozen-thawed cleavage stage embryo transfer: case report Fernando Guimarães1, Matheus Roque1,2, Marcello Valle1, Alessandra Kostolias1, Rodrigo A de Azevedo1, Ciro D Martinhago3, Marcos Sampaio4, Selmo Geber2,4 1ORIGEN – Center for Reproductive Medicine, Rio de Janeiro/RJ - Brazil 2UFMG – Universidade Federal de Minas Gerais, Belo Horizonte/MG - Brazil 3Chromosome Genomic Medicine, São Paulo/SP - Brazil 4ORIGEN – Center for Reproductive Medicine, Belo Horizonte/MG - Brazil ABSTRACT 2002). To perform the biopsy, it is important to cause a Pre-implantation genetic diagnosis (PGD) or screening disruption of the zona pellucida of the oocyte or embryo (PGS) technology, has emerged and developed in the past occurs, which can be performed mechanically, chemically few years, benefiting couples as it allows the selection and or using laser (Brezina et al., 2012). The key point of PGD/ transfer of healthy embryos during IVF treatments. These PGS is to have access to the genetic material to be evalu- techniques can be performed in oocytes (polar-body biop- ated, without compromising the material analyzed and the sy) or embryos (blastomere or trophectoderm biopsy). In quality of the oocyte/embryo (Xu & Montag, 2012). this case report, we describe the first two live births to be Polar body (PB) biopsy was introduced in 1990 (Ver- published in Brazil after a polar-body (PB) biopsy. In case linsky et al., 1990), and it is associated with a less inva- 1, a 42-year-old was submitted to PB biopsy with PGS due sive technique, presenting advantages, because it main- to advanced maternal age and poor ovarian reserve. -
Preimplantation Genetic Diagnosis
REVIEW Review Preimplantation genetic diagnosis Karen Sermon, André Van Steirteghem, Inge Liebaers Preimplantation genetic diagnosis (PGD) was introduced at the beginning of the 1990s as an alternative to prenatal diagnosis, to prevent termination of pregnancy in couples with a high risk for offspring affected by a sex-linked genetic disease. At that time, embryos obtained in vitro were tested to ascertain their sex, and only female embryos were transferred. Since then, techniques for genetic analysis at the single-cell level, involving assessment of first and second polar bodies from oocytes or blastomeres from cleavage-stage embryos, have evolved. Fluorescence in-situ hybridisation (FISH) has been introduced for the analysis of chromosomes and PCR for the analysis of genes in cases of monogenic diseases. In-vitro culture of embryos has also improved through the use of sequential media. Here, we provide an overview of indications for, and techniques used in, PGD, and discuss results obtained with the technique and outcomes of pregnancies. A brief review of new technologies is also included. Preimplantation genetic diagnosis (PGD) is an early form of described; fluorescence in-situ hybridisation (FISH) has prenatal diagnosis, in which embryos created in vitro are since replaced PCR as a reliable method for the sexing of analysed for well-defined genetic defects; only those free of embryos,7,8 and has been widely used for PGD-AS and for the defects are replaced into the womb.1 The technique is detection of imbalanced forms of chromosomal used mainly in two broad indication groups. The first group aberrations.2,9,10 are individuals at high risk of having a child with a genetic Here, we discuss methods used for diagnosis of genetic disease—eg, carriers of a monogenic disease or of diseases, indications for PGD and PGD-AS, results chromosomal structural aberrations, such as transloca- obtained with the techniques, and subsequent outcomes tions—who have repeatedly opted to terminate their of pregnancies. -
Analysis of Nine Chromosome Probes in First Polar Bodies and Metaphase II Oocytes for the Detection of Aneuploidies
European Journal of Human Genetics (2003) 11, 325–336 & 2003 Nature Publishing Group All rights reserved 1018-4813/03 $25.00 www.nature.com/ejhg ARTICLE Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies Aı¨da Pujol*,1, Irene Boiso2, Jordi Benet1, Anna Veiga2, Merce` Durban1, Mercedes Campillo3, Josep Egozcue1 and Joaquima Navarro1 1Departament de Biologia Cel.lular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Auto`noma de Barcelona, E-08193 Bellaterra, Spain; 2Servei de Medicina de la Reproduccio´, Institut Universitari Dexeus, Pg. Bonanova 89-91, E-08017 Barcelona, Spain; 3Laboratori de Medicina Computacional, Unitat de Bioestadı´stica, Facultat de Medicina, Universitat Auto`noma de Barcelona, Spain We used fluorescent in situ hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from in vitro matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. -
Preimplantation Diagnosis: a Realistic Option for Assisted Reproduction and Genetic Practice Anver Kuliev and Yury Verlinsky
Preimplantation diagnosis: a realistic option for assisted reproduction and genetic practice Anver Kuliev and Yury Verlinsky Purpose of review Introduction Preimplantation genetic diagnosis (PGD) allows genetically Introduced 14 years ago, preimplantation genetic diag- disadvantaged couples to reproduce, while avoiding the nosis (PGD) permits genetic testing before the transfer of birth of children with targeted genetic disorders. By embryos to the mother, which has distinct advantages in ensuring unaffected pregnancies, PGD circumvents the establishing pregnancies unaffected by tested disorders possible need and therefore risks of pregnancy termination. and without the potential need for pregnancy termina- This review will describe the current progress of PGD for tion. Approximately 7000 PGD cases have been per- Mendelian and chromosomal disorders and its impact on formed worldwide, which have resulted in the birth of reproductive medicine. more than 1000 healthy children [1]. PGD can be used Recent findings for the diagnosis of late-onset diseases with genetic Indications for PGD have expanded beyond those used in predisposition, preimplantation HLA typing, and other prenatal diagnosis, which has also resulted in improved non-traditional prenatal testing; thus, PGD complements access to HLA-compatible stem-cell transplantation for other methods used in prenatal diagnosis [2]. By permit- siblings through preimplantation HLA typing. More than ting selection of euploid embryos for transfer, PGD 1000 apparently healthy, unaffected children have been improves reproductive outcome, which has resulted in born after PGD, suggesting its accuracy, reliability and its extensive use in assisted reproduction practices [1, safety. PGD is currently the only hope for carriers of 2–5]. This review will describe the current progress of balanced translocations.